Abstract
PURPOSE. The purpose of this study was to evaluate the association between the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 gene and Fuchs’ endothelial corneal dystrophy (FECD) in a Japanese population. METHODS. Forty-seven Japanese FECD patients and 96 age-matched controls were recruited. FECD patients and controls were examined by slit-lamp and noncontact specular microscopy. The repeat length was determined by direct sequencing and short tandem repeat assay of PCR-amplified DNA and Southern blotting of unamplified DNA. RESULTS. A TNR expansion, defined as >50 CTG repeats in the TCF4 gene was identified in 12 of 47 FECD cases (26%) and 0 of 96 controls (0%; P < 0.001). Sensitivity and specificity in this study were 26% and 100%, respectively. The clinical characteristics of FECD patients with TNR expansion were not distinct from those without TNR expansion. CONCLUSIONS. These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. In contrast to Caucasian cohorts in whom the TNR expansion is present in most patients with FECD, a CTG expansion is present in a minority of Japanese subjects, indicating other genetic variants as common causes of phenotypically identical disease in this population.
Original language | English (US) |
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Pages (from-to) | 4865-4869 |
Number of pages | 5 |
Journal | Investigative Ophthalmology and Visual Science |
Volume | 56 |
Issue number | 8 |
DOIs | |
State | Published - 2015 |
Keywords
- Corneal endothelium
- Fuchs’ endothelial corneal dystrophy
- TCF4
ASJC Scopus subject areas
- Ophthalmology
- Sensory Systems
- Cellular and Molecular Neuroscience